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Paul Rothberg, Ph.D.

Professor of Pathology and Laboratory Medicine

Molecular Diagnostics
Molecular Genetics, Molecular Oncology

URMC Labs
601 Elmwood Ave., Rm G-2113
Rochester, NY 14642-8608
Tel: (585) 273-2229
Fax: (585) 273-5120

Paul_Rothberg@urmc.rochester.edu

Dr. Rothberg is Director of the Molecular Diagnostics Section of the Strong Health clinical laboratories. The Molecular Diagnostics Section uses the techniques of molecular biology to aid in the diagnosis of human disease. Dr. Rothberg is responsible for the planning and development of laboratory tests that support the care of patients with inherited disease, cancer and infectious disease. His particular clinical research interests include the development of new testing strategies for the measurement of minimal residual disease in cancer patients, and the development of methods to predict response to therapy.

Qualifications

Ph.D., Molecular Biology, State University of New York at Stony Brook 1981
NIH Postdoctoral Trainee, Institute for Cancer Research, Fox Chase Cancer Center 1982-84
Special Fellow of the Leukemia Society of American, Institute for Cancer Research, Fox Chase Cancer Center 1984-85
Board Certified in Clinical Molecular Genetics, American Board of Medical Genetics 1993
Certificate of Qualification from the New York State Department of Health: Qualified to act as a Laboratory Director in Genetic Testing, Oncology - Molecular Detection, and Histocompatibility (limited to bone marrow engraftment monitoring).

Professional Activities

Editorial Boards: Leukemia Research, Genetic Testing

Research Overview

Dr. Rothberg's research focuses on deciphering the role of human genetic variation in the development of disease. Particular areas of focus include cancer and neurodegeneration. Current areas of investigation include studies on the molecular genetics of neuronal ceroid lipofuscinosis (Batten disease) in collaboration with the Batten Disease Clinical and Research Center (http://dbb.urmc.rochester.edu/labs/pearce/bddcrc/index.htm), the early prediction of drug resistance in chronic myeloid leukemia, and the role of germline variation in the prognosis of prostate cancer.

Publications

Vargas RL, Felgar RE, Rothberg PG. Detection of clonality in lymphoproliferations using PCR of the antigen receptor genes: Does size matter? Leuk Res. 2007 Jun 21; [Epub ahead of print]

Walker AR, Rothberg PG, Liesveld JL. A case of JAK2 positive essential thrombocythemia 16.5 years after autologous marrow transplantation for AML. Bone Marrow Transplant. 2007 Jun;39(11):725-6.

Ramirez-Montealegre D, Rothberg PG, Pearce DA. Another disorder finds its gene. Brain. 2006 Jun;129(Pt 6):1353-6.

Leman AR, Polochock S, Mole SE, Pearce DA, Rothberg PG. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. J Neurosci Methods. 2006 Oct 15;157(1):124-31.

Adams H, de Blieck EA, Mink JW, Marshall FJ, Kwon J, Dure L, Rothberg PG, Ramirez-Montealegre D, Pearce DA. Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis. Dev Med Child Neurol. 2006 Apr;48(4):259-64.

Vargas RL, Fallone E, Felgar RE, Friedberg JW, Arbini AA, Andersen AA, Rothberg PG. Is there an association between ocular adnexal lymphoma and infection with Chlamydia psittaci? The University of Rochester experience. Leuk Res. 2006 May;30(5):547-51.

Nye MB, Leman AR, Meyer ME, Menegus MA, Rothberg PG. Sequence diversity in the glycoprotein B gene complicates real-time PCR assays for detection and quantification of cytomegalovirus. J Clin Microbiol. 2005 Oct;43(10):4968-71.

Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neurosci Lett. 2005 Oct 21;387(2):111-4.

Marshall FJ, de Blieck EA, Mink JW, Dure L, Adams H, Messing S, Rothberg PG, Levy E, McDonough T, DeYoung J, Wang M, Ramirez-Montealegre D, Kwon JM, Pearce DA. A clinical rating scale for Batten disease: reliable and relevant for clinical trials. Neurology. 2005 Jul 26;65(2):275-9.

Vargas RL, Felgar RE, Rothberg PG. Re: Prognostic significance of a short sequence insertion in the MCL-1 promoter in chronic lymphocytic leukemia. J Natl Cancer Inst. 2005 Jul 20;97(14):1089-90; author reply 1093-5.

McClaskey JH, Leman AR, Rothberg PG. Homogeneous amplification nucleobase quenching assay to detect the E474Q LCHAD deficiency mutation. Genet Test. 2005 Spring;9(1):1-5.

Ramirez-Montealegre D, Chattopadhyay S, Curran TM, Wasserfall C, Pritchard L, Schatz D, Petitto J, Hopkins D, She JX, Rothberg PG, Atkinson M, Pearce DA. Autoimmunity to glutamic acid decarboxylase in the neurodegenerative disorder Batten disease. Neurology. 2005 Feb 22;64(4):743-5.

Jeong W, Rothberg PG, Delaney V, Facciuto ME, Yalamanchili K, Nelson JC. Liver transplantation for type 1 primary hyperoxaluria as a cure for combined thrombophilia. Thromb Haemost. 2004 Nov;92(5):1157-8.

Rothberg PG, Ramirez-Montealegre D, Frazier SD, Pearce DA. Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. J Mol Diagn. 2004 Aug;6(3):260-3.

Rothberg PG. Detection of Minimal Residual Disease in Acute Lymphoblastic Leukemia. T. Szczepanski (Ed.), Immunology, Rotterdam, 371 pp. Leuk Res. 2003 Nov;27(11):1068.

Rothberg, PG. Imatinib: resisting the resistance. Leuk Res. 2003 Nov;27(11):977-8.

Chatha RK, Johnson AM, Rothberg PG, Townsend RR, Neumann HP, Gabow PA. Von Hippel-Lindau disease masquerading as autosomal dominant polycystic kidney disease. Am J Kidney Dis. 2001 Apr;37(4):852-8.

Rothberg PG, Bradley JF, Baker DW, Huelsman KM. Is the P25L a "real" VHL mutation? Mol Diagn. 2001 Mar;6(1):49-54.

Rothberg PG. Metabolic pathway for leucovorin. Mol Diagn. 2000 Mar;5(1):5-6.